Biomarkers of fabry disease nephropathy

Raphael Schiffmann, Stephen Waldek, Ariela Benigni, Christiane Auray-Blais

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

It is suggested that biomarkers of renal complications of Fabry disease are likely to be useful for diagnosis and to follow the natural disease progression or the effect of specific therapeutic interventions. Traditionally, globotriaosylceramide (Gb3) in urine has been used to evaluate the effect of specific therapy, such as enzyme replacement therapy (ERT). Although urinary Gb3 decreases significantly with ERT, it has not yet been shown to be a valid surrogate marker in treatment trials. We propose a detailed study of the nature and origin of Gb3 combined with a prospective collaborative trial that combines Gb3 changes with the effect of ERT on clinical nephrological outcome measures. Existing biomarkers such as general proteinuria/albuminuria or specific proteins such as N-acetyl-β-D- glucosaminidase should be evaluated along with novel proteomic or metabolomic studies for biomarker discovery using mass spectrometry or nuclear magnetic resonance. Standard scoring of all pathologic aspects of kidney biopsies may also be a promising way to assess the effect of therapy.

Original languageEnglish
Pages (from-to)360-364
Number of pages5
JournalClinical Journal of the American Society of Nephrology
Volume5
Issue number2
DOIs
Publication statusPublished - 2010

Fingerprint

Fabry Disease
Enzyme Replacement Therapy
Biomarkers
Kidney
Hexosaminidases
Albuminuria
Metabolomics
Therapeutic Uses
Proteinuria
Proteomics
Disease Progression
Mass Spectrometry
Magnetic Resonance Spectroscopy
Therapeutics
Outcome Assessment (Health Care)
Urine
Biopsy
Proteins

ASJC Scopus subject areas

  • Critical Care and Intensive Care Medicine
  • Epidemiology
  • Nephrology
  • Transplantation

Cite this

Biomarkers of fabry disease nephropathy. / Schiffmann, Raphael; Waldek, Stephen; Benigni, Ariela; Auray-Blais, Christiane.

In: Clinical Journal of the American Society of Nephrology, Vol. 5, No. 2, 2010, p. 360-364.

Research output: Contribution to journalArticle

Schiffmann, Raphael ; Waldek, Stephen ; Benigni, Ariela ; Auray-Blais, Christiane. / Biomarkers of fabry disease nephropathy. In: Clinical Journal of the American Society of Nephrology. 2010 ; Vol. 5, No. 2. pp. 360-364.
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